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Article

Congenital isolated central hypothyroidism: Novel mutations and their functional implications.

Handbook of clinical neurology - 1 Jan 2021

Boelen Anita, van Trotsenburg A S Paul, Fliers Eric

Abstract excerpt

Congenital hypothyroidism is the most frequent endocrine disorder in newborns, occurring in 1 per 3000-4000 newborns. In the Netherlands, the neonatal screening program is based primarily on heel prick thyroxine (T4). In contrast to thyroid-stimulating hormone-based programs, this approach allows for the detection of both primary and central congenital hypothyroidism. Over the past decade, the identification of...

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PMID: 34225927
DOI: 10.1016/B978-0-12-820107-7.00010-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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